MCID: PRR020
MIFTS: 23

Perrault Syndrome 1

Categories: Genetic diseases, Ear diseases, Rare diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Perrault Syndrome 1

MalaCards integrated aliases for Perrault Syndrome 1:

Name: Perrault Syndrome 1 54 24 71 13
Ovarian Dysgenesis with Sensorineural Deafness 24 71
Gonadal Dysgenesis, Xx Type, with Deafness 24
Gonadal Dysgenesis Xx Type with Deafness 71
Gonadal Dysgenesis Xx Type Deafness 69
Prlts1 71
Prlts 24

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset of deafness in early childhood
affected females are infertile
some females have only deafness and ovarian dysgenesis without neurologic abnormalities
affected males have normal pubertal development and are fertile


HPO:

32
perrault syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Perrault Syndrome 1

OMIM : 54
Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by Pierce et al., 2010). Pierce et al. (2010) noted that clinical heterogeneity of Perrault syndrome has prompted classification into type I, which is static and without neurologic disease, and type II, which is with progressive neurologic disease. (233400)

MalaCards based summary : Perrault Syndrome 1, also known as ovarian dysgenesis with sensorineural deafness, is related to perrault syndrome and perrault syndrome 3, and has symptoms including short stature, scoliosis and nystagmus. An important gene associated with Perrault Syndrome 1 is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4). Affiliated tissues include ovary.

UniProtKB/Swiss-Prot : 71 Perrault syndrome 1: A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.

Related Diseases for Perrault Syndrome 1

Diseases in the Perrault Syndrome family:

Perrault Syndrome 4 Perrault Syndrome 1
Perrault Syndrome 2 Perrault Syndrome 5
Perrault Syndrome 6 Perrault Syndrome 3

Diseases related to Perrault Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 perrault syndrome 11.4
2 perrault syndrome 3 10.9
3 d-bifunctional protein deficiency 10.8
4 prostate cancer 9.8
5 prostatitis 9.8

Graphical network of the top 20 diseases related to Perrault Syndrome 1:



Diseases related to Perrault Syndrome 1

Symptoms & Phenotypes for Perrault Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate

Head And Neck- Eyes:
nystagmus
limited extraocular movements

Endocrine Features:
amenorrhea, primary
low estradiol
increased gonadotropin levels

Head And Neck- Ears:
hearing loss, sensorineural

Genitourinary- Internal Genitalia Female:
streak gonads
small ovaries
ovarian dysgenesis
lack of ovaries

Muscle Soft Tissue:
weakness of the lower limbs

Laboratory- Abnormalities:
decreased beta-oxidation of pristanic acid

Skeletal- Spine:
scoliosis

Neurologic- Central Nervous System:
delayed motor development (in some patients)
cognitive impairment (in some patients)
ataxic gait (in some patients)
cerebellar atrophy (in some patients)
spastic diplegia (in some patients)
more
Growth- Other:
growth retardation

Skeletal- Feet:
pes cavus
pes equinovarus

Genitourinary- External Genitalia Female:
immature genitalia

Neurologic- Peripheral Nervous System:
sensorimotor demyelinating or axonal peripheral neuropathy (in some patients)
hyporeflexia (in some patients)
areflexia (in some patients)


Clinical features from OMIM:

233400

Human phenotypes related to Perrault Syndrome 1:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 scoliosis 32 HP:0002650
3 nystagmus 32 HP:0000639
4 dysarthria 32 occasional (7.5%) HP:0001260
5 hyporeflexia 32 occasional (7.5%) HP:0001265
6 cognitive impairment 32 occasional (7.5%) HP:0100543
7 osteoporosis 32 HP:0000939
8 talipes equinovarus 32 HP:0001762
9 pes cavus 32 HP:0001761
10 areflexia 32 occasional (7.5%) HP:0001284
11 gait ataxia 32 HP:0002066
12 cerebellar atrophy 32 occasional (7.5%) HP:0001272
13 motor delay 32 occasional (7.5%) HP:0001270
14 sensorimotor neuropathy 32 occasional (7.5%) HP:0007141
15 high palate 32 HP:0000218
16 gonadal dysgenesis 32 HP:0000133
17 primary amenorrhea 32 HP:0000786
18 spastic diplegia 32 occasional (7.5%) HP:0001264
19 sensorineural hearing impairment 32 HP:0000407
20 limited extraocular movements 32 HP:0007941
21 increased circulating gonadotropin level 32 HP:0000837

UMLS symptoms related to Perrault Syndrome 1:


lower limb muscle weakness

Drugs & Therapeutics for Perrault Syndrome 1

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 1

Genetic Tests for Perrault Syndrome 1

Genetic tests related to Perrault Syndrome 1:

id Genetic test Affiliating Genes
1 Perrault Syndrome 1 24 HSD17B4

Anatomical Context for Perrault Syndrome 1

MalaCards organs/tissues related to Perrault Syndrome 1:

39
Ovary

Publications for Perrault Syndrome 1

Variations for Perrault Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 1:

71
id Symbol AA change Variation ID SNP ID
1 HSD17B4 p.Tyr217Cys VAR_065907 rs387906825

ClinVar genetic disease variations for Perrault Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
2 HSD17B4 NM_000414.3(HSD17B4): c.650A> G (p.Tyr217Cys) single nucleotide variant Pathogenic rs387906825 GRCh37 Chromosome 5, 118824914: 118824914
3 HSD17B4 HSD17B4, TYR568TER undetermined variant Pathogenic
4 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Pathogenic rs587777442 GRCh38 Chromosome 5, 119456357: 119456357
5 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Pathogenic rs587777443 GRCh38 Chromosome 5, 119525259: 119525259
6 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Pathogenic rs587777444 GRCh38 Chromosome 5, 119525250: 119525250
7 HSD17B4 NM_000414.3(HSD17B4): c.1628G> C (p.Arg543Pro) single nucleotide variant Pathogenic rs201009485 GRCh38 Chromosome 5, 119525971: 119525971
8 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh38 Chromosome 5, 119452578: 119452578

Expression for Perrault Syndrome 1

Search GEO for disease gene expression data for Perrault Syndrome 1.

Pathways for Perrault Syndrome 1

GO Terms for Perrault Syndrome 1

Sources for Perrault Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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